Terminology Service for NFDI4Health
Amaurosis hypertrichosis syndrome (disorder)
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http://snomed.info/id/720983002
Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
Term info
Label
Amaurosis hypertrichosis syndrome (disorder)
Synonyms
- Amaurosis hypertrichosis syndrome
Term relations
Subclass of:
- Congenital anomaly of retina (disorder)
- Hereditary retinal dystrophy (disorder)
- Congenital hypertrichosis (disorder)
- Hereditary disorder of the integument (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Developmental hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Hereditary retinal dystrophy (disorder) and Hypertrichosis (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Dystrophy (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Retinal structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Growth alteration (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Hair structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))